| Full text | |
| Author(s): |
Guilherme Augusto Barcelos Domingues
[1]
;
Marina Malta Letro Kizys
[2]
;
Carolina Castro Porto Silva Janovsky
[3]
;
Rui Monteiro de Barros Maciel
[4]
;
Magnus Régios Dias-da-Silva
[5]
;
João Roberto Maciel Martins
[6]
;
Cleber Pinto Camacho
;
Lucas Leite Cunha
[8]
Total Authors: 8
|
| Affiliation: | [1] Universidade Federal de São Paulo. Divisão de Endocrinologia. Laboratório de Endocrinologia Molecular e Translacional - Brasil
[2] Universidade Federal de São Paulo. Divisão de Endocrinologia. Laboratório de Endocrinologia Molecular e Translacional - Brasil
[3] Universidade Federal de São Paulo. Divisão de Endocrinologia. Laboratório de Endocrinologia Molecular e Translacional - Brasil
[4] Universidade Federal de São Paulo. Divisão de Endocrinologia. Laboratório de Endocrinologia Molecular e Translacional - Brasil
[5] Universidade Federal de São Paulo. Divisão de Endocrinologia. Laboratório de Endocrinologia Molecular e Translacional - Brasil
[6] Universidade Federal de São Paulo. Divisão de Endocrinologia. Laboratório de Endocrinologia Molecular e Translacional - Brasil
[8] Universidade Federal de São Paulo. Divisão de Endocrinologia. Laboratório de Endocrinologia Molecular e Translacional - Brasil
Total Affiliations: 8
|
| Document type: | Journal article |
| Source: | ARCHIVES OF ENDOCRINOLOGY METABOLISM; v. 66, n. 1, p. 112-117, 2022-03-08. |
| Abstract | |
SUMMARY Thyroid cancer is the most common endocrine malignancy, and papillary thyroid carcinoma (PTC) is the main subtype. The cribriform morular variant is a histological phenotype of PTC characterized by its relationship with familial adenomatous polyposis (FAP). Description of the case: We report the genetic assessment of a 20-year-old female patient diagnosed with a cribriform-morular variant of PTC and FAP. We aimed to assess the genetic background of the reported patient, looking for variants that would help us explain the predisposition to tumorigenesis. Genomic DNA was extracted from peripheral blood lymphocytes, and whole exome sequencing was performed. We applied an overrepresentation and gene-set enrichment analysis to look for an accumulation of effects of variants in multiple genes at the genome. We found an overrepresentation of single nucleotide variants (SNVs) in extracellular matrix interactions and cell adhesion genes. Underrepresentation of SNVs in genes related to the regulation of autophagy and cell cycle control was also observed. We hypothesize that the package of alterations of our patient may help to explain why she presented colonic manifestations and thyroid cancer. Our findings suggest that multiple variants with minor impact, when considered together, may be helpful to characterize one particular clinical condition. (AU) | |
| FAPESP's process: | 06/60402-1 - Medular carcinoma of the thyroid: revisiting the clinical, molecular biological, biochemical and biological aspects following findings of molecular genetics |
| Grantee: | Rui Monteiro de Barros Maciel |
| Support Opportunities: | Research Projects - Thematic Grants |